LOCUS ACB12758.1 2112 aa PRT HUM 19-AUG-2010
DEFINITION Homo sapiens dysferlin variant V1_2 protein.
ACCESSION EU515161-1
PROTEIN_ID ACB12758.1
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 6636)
AUTHORS Pramono,Z.A., Tan,C.L., Seah,I.A., See,J.S., Kam,S.Y., Lai,P.S. and
Yee,W.C.
TITLE Identification and characterisation of human dysferlin transcript
variants: implications for dysferlin mutational screening and
isoforms
JOURNAL Hum. Genet. 125 (4), 413-420 (2009)
PUBMED 19221801
REFERENCE 2 (bases 1 to 6636)
AUTHORS Pramono,Z.A.D., Kam,S.Y., Ho,M.F., Tan,C.L., Lim,C.C., See,J.S.L.,
Lai,P.S. and Yee,W.C.
TITLE Human dysferlin variants from alternative splicing: implications
for dysferlin mutational screening and isoforms
JOURNAL Unpublished
REFERENCE 3 (bases 1 to 6636)
AUTHORS Pramono,Z.A.D., Tan,C.L., See,J.S.L., Lim,C.C., Lai,P.S. and
Yee,W.C.
TITLE Direct Submission
JOURNAL Submitted (22-FEB-2008) Neuromuscular Research Laboratory, National
Neuroscience Institute, 11 Jalan Tan Tock Seng 308433, Singapore
FEATURES Qualifiers
source /db_xref="H-InvDB:HIT000484997"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2p13"
protein /gene="DYSF"
/note="alternatively spliced"
BEGIN
1 MLCCLLVRAS NLPSAKKDRR SDPVASLTFR GVKKRTKVIK NSVNPVWNEG FEWDLKGIPL
61 DQGSELHVVV KDHETMGRNR FLGEAKVPLR EVLATPSLSA SFNAPLLDTK KQPTGASLVL
121 QVSYTPLPGA VPLFPPPTPL EPSPTLPDLD VVAGGGQSRA ETWSLLSDST MDTRYSGKKW
181 PAPTDTGGEE DTEDQGLTGD EAEPFLDQSG GPGAPTTPRK LPSRPPPHYP GIKRKRSAPT
241 SRKLLSDKPQ DFQIRVQVIE GRQLPGVNIK PVVKVTAAGQ TKRTRIHKGN SPLFNETLFF
301 NLFDSPGELF DEPIFITVVD SRSLRTDALL GEFRMDVGTI YREPRHAYLR KWLLLSDPDD
361 FSAGARGYLK TSLCVLGPGD EAPLERKDPS EDKEDIESNL LRPTGVALRG AHFCLKVFRA
421 EDLPQMDDAV MDNVKQIFGF ESNKKNLVDP FVEVSFAGKM LCSKILEKTA NPQWNQNITL
481 PAMFPSMCEK MRIRIIDWDR LTHNDIVATT YLSMSKISAP GGEIEEEPAG AVKPSKASDL
541 DDYLGFLPTF GPCYINLYGS PREFTGFPDP YTELNTGKGE GVAYRGRLLL SLETKLVEHS
601 EQKVEDLPAD DILRVEKYLR RRKYSLFAAF YSATMLQDVD DAIQFEVSIG NYGNKFDMTC
661 LPLASTTQYS RAVFDGCHYY YLPWGNVKPV VVLSSYWEDI SHRIETQNQL LGIADRLEAG
721 LEQVHLALKA QCSTEDVDSL VAQLTDELIA GCSQPLGDIH ETPSATHLDQ YLYQLRTHHL
781 SQITEAALAL KLGHSELPAA LEQAEDWLLR LRALAEEPQN SLPDIVIWML QGDKRVAYQR
841 VPAHQVLFSR RGANYCGKNC GKLQTIFLKY PMEKVPGARM PVQIRVKLWF GLSVDEKEFN
901 QFAEGKLSVF AETYENETKL ALVGNWGTTG LTYPKFSDVT GKIKLPKDSF RPSAGWTWAG
961 DWFVCPEKTL LHDMDAGHLS FVEEVFENQT RLPGGQWIYM SDNYTDVNGE KVLPKDDIEC
1021 PLGWKWEDEE WSTDLNRAVD EQGWEYSITI PPERKPKHWV PAEKMYYTHR RRRWVRLRRR
1081 DLSQMEALKR HRQAEAEGEG WEYASLFGWK FHLEYRKTDA FRRRRWRRRM EPLEKTGPAA
1141 VFALEGALGG VMDDKSEDSM SVSTLSFGVN RPTISCIFDY GNRYHLRCYM YQARDLAAMD
1201 KDSFSDPYAI VSFLHQSQKT VVVKNTLNPT WDQTLIFYEI EIFGEPATVA EQPPSIVVEL
1261 YDHDTYGADE FMGRCICQPS LERMPRLAWF PLTRGSQPSG ELLASFELIQ REKPAIHHIP
1321 GFEVQETSRI LDESEDTDLP YPPPQREANI YMVPQNIKPA LQRTAIEILA WGLRNMKSYQ
1381 LANISSPSLV VECGGQTVQS CVIRNLRKNP NFDICTLFME VMLPREELYC PPITVKVIDN
1441 RQFGRRPVVG QCTIRSLESF LCDPYSAESP SPQGGPDDVS LLSPGEDVLI DIDDKEPLIP
1501 IQEEEFIDWW SKFFASIGER EKCGSYLEKD FDTLKVYDTQ LENVEAFEGL SDFCNTFKLY
1561 RGKTQEETED PSVIGEFKGL FKIYPLPEDP AIPMPPRQFH QLAAQGPQEC LVRIYIVRAF
1621 GLQPKDPNGK CDPYIKISIG KKSVSDQDNY IPCTLEPVFG KMFELTCTLP LEKDLKITLY
1681 DYDLLSKDEK IGETVVDLEN RLLSKFGARC GLPQTYCVSG PNQWRDQLRP SQLLHLFCQQ
1741 HRVKAPVYRT DRVMFQDKEY SIEEIEAGRI PNPHLGPVEE RLALHVLQQQ GLVPEHVESR
1801 PLYSPLQPDI EQGKLQMWVD LFPKALGRPG PPFNITPRRA RRFFLRCIIW NTRDVILDDL
1861 SLTGEKMSDI YVKGWMIGFE EHKQKTDVHY RSLGGEGNFN WRFIFPFDYL PAEQVCTIAK
1921 KDAFWRLDKT ESKIPARVVF QIWDNDKFSF DDFLGSLQLD LNRMPKPAKT AKKCSLDQLD
1981 DAFHPEWFVS LFEQKTVKGW WPCVAEEGEK KILAGKLEMT LEIVAESEHE ERPAGQGRDE
2041 PNMNPKLEDP RRPDTSFLWF TSPYKTMKFI LWRRFRWAII LFIILFILLL FLAIFIYAFP
2101 NYAAMKLVKP FS
//